Incidental Mutation 'R3082:Prdm5'
| ID |
265482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prdm5
|
| Ensembl Gene |
ENSMUSG00000029913 |
| Gene Name |
PR domain containing 5 |
| Synonyms |
6530401I24Rik, PFM2, E130112L17Rik, 4432417F03Rik |
| MMRRC Submission |
040572-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3082 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
65755972-65913994 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65913069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 206
(D206G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031973]
[ENSMUST00000031976]
[ENSMUST00000081219]
[ENSMUST00000172638]
|
| AlphaFold |
Q9CXE0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031973
AA Change: D400G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031973
Gene: ENSMUSG00000029913
AA Change: D400G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3EP0|B
|
4 |
101 |
1e-11 |
PDB |
|
Blast:SET
|
8 |
100 |
4e-64 |
BLAST |
|
ZnF_C2H2
|
105 |
127 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
133 |
155 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
161 |
183 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
189 |
211 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
217 |
240 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
246 |
268 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
274 |
296 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
302 |
324 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
387 |
410 |
1.43e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031976
AA Change: D584G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031976
Gene: ENSMUSG00000029913
AA Change: D584G
| Domain | Start | End | E-Value | Type |
|---|
|
SET
|
8 |
130 |
2.01e-4 |
SMART |
|
ZnF_C2H2
|
167 |
190 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
199 |
221 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
231 |
256 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
264 |
286 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
289 |
311 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
317 |
339 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
345 |
367 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
373 |
395 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
401 |
424 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
430 |
452 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
458 |
480 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
486 |
508 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
514 |
536 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
542 |
564 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
571 |
594 |
1.43e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081219
AA Change: D206G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079979
Gene: ENSMUSG00000029913
AA Change: D206G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SET
|
8 |
72 |
2e-34 |
BLAST |
|
ZnF_C2H2
|
80 |
102 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
108 |
130 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
136 |
158 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
164 |
186 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
193 |
216 |
1.43e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172638
|
| SMART Domains |
Protein: ENSMUSP00000133423
Gene: ENSMUSG00000029913
| Domain | Start | End | E-Value | Type |
|---|
|
SET
|
8 |
130 |
2.01e-4 |
SMART |
|
ZnF_C2H2
|
167 |
190 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
199 |
221 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
231 |
256 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
264 |
286 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
289 |
311 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
317 |
339 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
345 |
367 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
373 |
395 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
401 |
424 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
430 |
452 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
458 |
480 |
2.4e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205155
|
| Meta Mutation Damage Score |
0.1154 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a hypomorphic allele display delayed bone ossification with reduced collagen fibril formation, total bone area, bone mineral content and bone mineral density. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
A |
G |
10: 106,859,576 (GRCm39) |
V341A |
possibly damaging |
Het |
| Adam11 |
T |
C |
11: 102,660,943 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
G |
T |
1: 58,322,759 (GRCm39) |
|
probably benign |
Het |
| Cdh6 |
T |
C |
15: 13,044,838 (GRCm39) |
D428G |
probably damaging |
Het |
| Cep63 |
T |
C |
9: 102,479,696 (GRCm39) |
T339A |
probably benign |
Het |
| Clcn1 |
T |
C |
6: 42,267,112 (GRCm39) |
Y66H |
probably damaging |
Het |
| Cpsf2 |
C |
G |
12: 101,955,069 (GRCm39) |
S280C |
probably damaging |
Het |
| Dcaf6 |
G |
T |
1: 165,250,421 (GRCm39) |
|
probably benign |
Het |
| Ddx39a |
T |
A |
8: 84,449,335 (GRCm39) |
N344K |
possibly damaging |
Het |
| Dvl1 |
T |
C |
4: 155,932,316 (GRCm39) |
V42A |
possibly damaging |
Het |
| Ep400 |
A |
G |
5: 110,841,096 (GRCm39) |
|
probably benign |
Het |
| Epb41l5 |
C |
T |
1: 119,536,992 (GRCm39) |
V300I |
probably damaging |
Het |
| Fbln1 |
T |
G |
15: 85,149,454 (GRCm39) |
I617S |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Grin3a |
G |
A |
4: 49,665,243 (GRCm39) |
R1131W |
probably benign |
Het |
| Incenp |
T |
A |
19: 9,861,143 (GRCm39) |
M480L |
unknown |
Het |
| Ints13 |
G |
T |
6: 146,476,205 (GRCm39) |
Q99K |
possibly damaging |
Het |
| L2hgdh |
C |
T |
12: 69,768,858 (GRCm39) |
D85N |
probably benign |
Het |
| Lct |
A |
G |
1: 128,215,345 (GRCm39) |
Y1744H |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,255,236 (GRCm39) |
|
probably null |
Het |
| Mpdz |
A |
T |
4: 81,203,695 (GRCm39) |
|
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,367,471 (GRCm39) |
L498P |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,452,925 (GRCm39) |
E45D |
probably benign |
Het |
| Nedd4l |
T |
A |
18: 65,312,049 (GRCm39) |
N405K |
probably benign |
Het |
| Or4l15 |
A |
G |
14: 50,198,161 (GRCm39) |
Y123H |
probably damaging |
Het |
| Or8u10 |
C |
T |
2: 85,916,053 (GRCm39) |
V23I |
probably benign |
Het |
| Pitpnc1 |
A |
G |
11: 107,103,350 (GRCm39) |
S250P |
possibly damaging |
Het |
| Ppp1r18 |
A |
G |
17: 36,184,742 (GRCm39) |
D131G |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,244,303 (GRCm39) |
F455S |
probably damaging |
Het |
| Rictor |
A |
T |
15: 6,804,338 (GRCm39) |
Y565F |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,745,071 (GRCm39) |
N3852D |
probably damaging |
Het |
| S1pr5 |
A |
T |
9: 21,156,286 (GRCm39) |
C47S |
probably damaging |
Het |
| Serpinf2 |
T |
C |
11: 75,328,354 (GRCm39) |
R65G |
probably benign |
Het |
| Slfn14 |
C |
T |
11: 83,167,519 (GRCm39) |
W665* |
probably null |
Het |
| Smu1 |
T |
C |
4: 40,745,567 (GRCm39) |
D251G |
probably damaging |
Het |
| Spata18 |
A |
G |
5: 73,836,423 (GRCm39) |
|
probably benign |
Het |
| Tex19.2 |
A |
G |
11: 121,007,557 (GRCm39) |
V297A |
probably benign |
Het |
| Tmem131l |
A |
G |
3: 83,816,457 (GRCm39) |
|
probably null |
Het |
| Trim9 |
T |
C |
12: 70,301,887 (GRCm39) |
R584G |
possibly damaging |
Het |
| Trpm7 |
A |
T |
2: 126,686,342 (GRCm39) |
N295K |
possibly damaging |
Het |
| Ugt2a3 |
A |
G |
5: 87,473,534 (GRCm39) |
V461A |
probably benign |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,724 (GRCm39) |
M82K |
probably benign |
Het |
|
| Other mutations in Prdm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01395:Prdm5
|
APN |
6 |
65,847,374 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02363:Prdm5
|
APN |
6 |
65,771,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02457:Prdm5
|
APN |
6 |
65,858,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03190:Prdm5
|
APN |
6 |
65,833,116 (GRCm39) |
splice site |
probably benign |
|
|
IGL03239:Prdm5
|
APN |
6 |
65,863,062 (GRCm39) |
splice site |
probably benign |
|
|
IGL03377:Prdm5
|
APN |
6 |
65,836,457 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0329:Prdm5
|
UTSW |
6 |
65,839,887 (GRCm39) |
splice site |
probably benign |
|
|
R0926:Prdm5
|
UTSW |
6 |
65,860,531 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1458:Prdm5
|
UTSW |
6 |
65,860,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1859:Prdm5
|
UTSW |
6 |
65,808,263 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1956:Prdm5
|
UTSW |
6 |
65,913,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1996:Prdm5
|
UTSW |
6 |
65,913,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1997:Prdm5
|
UTSW |
6 |
65,913,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2019:Prdm5
|
UTSW |
6 |
65,808,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3819:Prdm5
|
UTSW |
6 |
65,913,041 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4411:Prdm5
|
UTSW |
6 |
65,878,771 (GRCm39) |
nonsense |
probably null |
|
|
R4981:Prdm5
|
UTSW |
6 |
65,847,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5077:Prdm5
|
UTSW |
6 |
65,756,158 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5089:Prdm5
|
UTSW |
6 |
65,833,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5138:Prdm5
|
UTSW |
6 |
65,833,086 (GRCm39) |
nonsense |
probably null |
|
|
R5735:Prdm5
|
UTSW |
6 |
65,904,974 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6355:Prdm5
|
UTSW |
6 |
65,860,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6743:Prdm5
|
UTSW |
6 |
65,860,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6769:Prdm5
|
UTSW |
6 |
65,839,920 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7216:Prdm5
|
UTSW |
6 |
65,904,967 (GRCm39) |
nonsense |
probably null |
|
|
R7305:Prdm5
|
UTSW |
6 |
65,808,244 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7510:Prdm5
|
UTSW |
6 |
65,904,976 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8270:Prdm5
|
UTSW |
6 |
65,913,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8529:Prdm5
|
UTSW |
6 |
65,878,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:Prdm5
|
UTSW |
6 |
65,860,569 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9283:Prdm5
|
UTSW |
6 |
65,858,060 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9427:Prdm5
|
UTSW |
6 |
65,771,321 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9477:Prdm5
|
UTSW |
6 |
65,771,342 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
X0017:Prdm5
|
UTSW |
6 |
65,846,246 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTTCTTAGACCCACTAGCAC -3'
(R):5'- GGCACATAAACACTGTCAGATC -3'
Sequencing Primer
(F):5'- CCACTAGCACATACTTGATAGAAGG -3'
(R):5'- GTCAGATCAATGAATCCTTTGTGGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation